When Your Baby Has a Birth Defect

If your child has a birth
defect, you might be feeling overwhelmed and unprepared. But you're not alone
— about 120,000 babies are born in the United States each year with birth
defects, according to the Centers for Disease Control and Prevention (CDC).

It's important to know that many people and resources
are available to help you and your child.

What Are Birth Defects?

Birth defects (also called congenital anomalies) are
problems present at birth. There are many different types of birth defects, and they
can range from mild to severe. Defects can be structural
(like a cleft lip/palate,
spina bifida, or a
heart defect) or functional/developmental
(like Down syndrome, deafness, or a metabolic disorder
like phenylketonuria).

Some defects are inherited (passed on to a baby by his/her parents), while others
have environmental causes. In many cases, the cause is unknown.

Steps to Take

As the parent of a child with a birth defect, it's important for you to:

Acknowledge your emotions. You might feel shock, denial, grief,
and even anger. Accept those feelings, and talk about them with your spouse/partner
and other family members. You also might consider seeing a counselor. Your doctor
probably can recommend a social worker or psychologist.

Get support. Talking with someone who's been through the same
thing can help. Ask your doctor or a social worker if other parents in the area have
children with the same condition. Consider joining a support group — ask the doctors
or specialists for advice on finding a local or national support group, or search
online.

Celebrate your child. Let yourself enjoy your baby the same way
any new parent would — by cuddling and playing, watching for developmental milestones
(even if they're different from those in children without a birth defect), and
sharing your joy with family members and friends. Many parents of babies with birth
defects wonder if they should send out birth announcements. This is a personal decision
— the fact that your baby has a health problem doesn't mean you shouldn't be
excited about the new addition to your family.

Getting Help and Information

Educate yourself. Try to learn as much as you can as soon
as you can. Start by asking your doctors lots of questions. Record the answers, and
if you're not satisfied — or if a doctor doesn't answer your questions thoroughly
— don't be afraid to get second opinions.

Other places to get information include:

books written for parents of children with birth defects

national organizations such as the March of Dimes, the National Information Center
for Children and Youth With Disabilities, and those representing a specific birth
defect

support groups or other parents

Keep a file with a running list of questions and the answers you find, as well
as suggestions for further reading and any materials your child's doctor gives you.
Keep an updated list of all health care providers and their phone numbers, as well
as emergency numbers.

Explore options for paying for treatment and ongoing care for your child. There
can be extra medical and therapeutic costs in caring for a child with a birth defect.
Besides health
insurance, other available resources include
nonprofit disability organizations, private foundations, Medicaid, and state and local
programs. A social worker can help you learn more about these.

Seek early intervention. Early intervention means bringing a team
of experts together to assess a child's needs and create a treatment program. Early intervention services can include feeding support, assistive technology (tools, devices, and aids that make everyday tasks easier for
people with disabilities), occupational
therapy, physical
therapy, speech therapy, nutrition services, and social work services.

help you find payment options and tell you where you can find free services

help you make important decisions about your child's care

provide counseling

Your child's doctor or a social worker at the hospital where you gave birth should
be able to connect you with the early intervention program in your area.

Work as a team. Most children with birth defects need a team of
professionals to treat them. Even if your child needs to see only one specialist,
that person will coordinate care with your primary
care provider. Some hospitals have teams ready to deal with problems such as heart
defects, cleft lip and palate, or cerebral palsy. Still, you may find yourself being
both the main contact between different care providers and the coordinator of your
child's appointments. As soon as possible, get to know the different team members.
Make sure they know who else will be caring for your child and that you intend to
play a key role.

Birth Defects in the Future

Research continues into the causes of birth defects and ways to detect, prevent,
and treat them. Technology plays a big part — for example, prenatal testing
has gotten better and more precise.

Safer and more accurate tests include:

ultrasound tests and magnetic resonance imaging (MRI)

cell-free DNA screening, which involves taking a blood sample
from the mother and testing it for the genetic makeup of the baby. This test helps
doctors identify any abnormal chromosomes in the baby, which can cause problems like
Down syndrome and Turner
syndrome.

amniocentesis and chorionic villi sampling.Amniocentesis
involves removing a small amount of amniotic fluid from around the developing fetus.
This fluid can be tested to check for genetic problems. Chorionic
villi sampling involves removing a small piece of the placenta to check for genetic
problems.

preconceptioncounseling can help couples understand
any risks for having a baby with a birth defect before they try to become pregnant.

None of these tests can prevent birth defects, but they give a clearer, safer,
and more accurate diagnosis at an earlier stage of pregnancy — giving parents
more time to seek advice and consider their options.

Genetics research is advancing quickly. The Human Genome Project has identified
most of the genes in the human body, but researchers are still working on understanding
what the genes do. Many gene mutations that lead to a high risk for birth defects
have been identified.

Early surgery is an option in the treatment of certain birth defects — and
sometimes can take place even before a baby is born. Surgeons now can operate on fetuses
to repair structural defects, such as hernias of the diaphragm, spina bifida, and
lung problems. These procedures can be controversial, though, because they sometimes
cause premature labor. And it's still not clear whether they always can improve a
child's outcome.

To get information on specific research about your child's disability, contact
the national organization for that disability. Also, the March of Dimes, the National
Information Center for Children and Youth With Disabilities, and the National Organization
for Rare Disorders, Inc. (NORD), may have information about the latest research.